Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

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Clinical Indication ID & Name

R151

Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

Test code

R151.1

Test name

N/A

Target genes

Familial hyperparathyroidism (480) and Hypocalciuric hypercalcaemia (481) 

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Familial Primary Hyperparathyroidism
i) <50y, OR ii) any age with a) a confirmed or relevant family history, OR b) multiglandular disease or hyperplasia in the presence of relevant family history, OR c) parathyroid carcinoma or atypical or cystic adenoma, OR d) ossifying fibroma(s) of the maxilla and /or mandible. Hypocalciuric hypercalcaemia Hypercalcaemia with hypocalciuria (calcium clearance: creatinine clearance ratio < 0.02), usually with normal PTH

Test code

R151.2

Test name

N/A

Target genes

Familial hyperparathyroidism (480) and Hypocalciuric hypercalcaemia (481) 

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Familial Primary Hyperparathyroidism
i) <50y, OR ii) any age with a) a confirmed or relevant family history, OR b) multiglandular disease or hyperplasia in the presence of relevant family history, OR c) parathyroid carcinoma or atypical or cystic adenoma, OR d) ossifying fibroma(s) of the maxilla and /or mandible. Hypocalciuric hypercalcaemia Hypercalcaemia with hypocalciuria (calcium clearance: creatinine clearance ratio < 0.02), usually with normal PTH

Commissioning group

Specialised

Overlapping idications

• R319 Calcium-sensing receptor phenotypes single gene test should be considered in neonatal hyperparathyroidism • R217 and R218 Multiple endocrine neoplasia indications should be used where there are features of multiple endocrine neoplasia including hypercalcaemia • R226 parathyroid carcinoma should be used for individuals with confirmed parathyroid carcinoma

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old